Clinical and research tests for C1836195 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypomagnesemia NGS Panel Fulgent Genetics United States	121	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia NGS Panel Fulgent Genetics United States	188	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Adams-Oliver Syndrome NGS Panel Fulgent Genetics United States	55	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniosynostosis NGS Panel Fulgent Genetics United States	339	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
WDR60 Single Gene Fulgent Genetics United States	56	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
WDR34 Single Gene Fulgent Genetics United States	57	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HDAC6 Single Gene Fulgent Genetics United States	34	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KMT2A Single Gene Fulgent Genetics United States	37	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
IFT172 Single Gene Fulgent Genetics United States	85	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NTNG1 Single Gene Fulgent Genetics United States	27	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EOGT Single Gene Fulgent Genetics United States	46	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FAM111A Single Gene Fulgent Genetics United States	90	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CEP120 Single Gene Fulgent Genetics United States	43	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Comprehensive NGS Panel Fulgent Genetics United States	729	398	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinitis Pigmentosa NGS Panel Fulgent Genetics United States	329	124	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Rett-Angelman NGS Panel Fulgent Genetics United States	77	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability NGS Panel Fulgent Genetics United States	1058	554	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autism NGS Panel Fulgent Genetics United States	170	106	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.